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Syndromes List

ENVIRONMENTAL CAUSES

ACUTE RADIATION SYNDROME: Radiation exposure.

12 hours post-exposure: Vomiting

24 hours post-exposure: Prostration (extreme exhaustion), fever, diarrhea

Later: Petechial hemorrhage, hypotension, tachycardia, profuse bloody diarrhea, maybe death.

CHINESE RESTAURANT SYNDROME: MSG reaction ------> Chest Pain, burning sensation over parts

of body.

BROWN-SEQUARD SYNDROME: Damage (injury) to half of spinal cord ------> symptoms:

Loss of pain and temperature sensation on contralateral side of body.

Loss of proprioception and discriminatory touch on ipsilateral side of body.

CARDIOVASCULAR

ADAMS-STOKES SYNDROME: Heart block, with slow or absent pulse, often accompanied by

convulsions.

BARLOW SYNDROME: Floppy Mitral Valve Syndrome; Massive Mitral Valve Prolapse ------> Late

apical systolic murmur, systolic click, or both.

EISENMENGER'S SYNDROME: Ventricular-Septal Defect ------> Pulmonary hypertension and

cyanosis.

FLOPPY-VALVE SYNDROME: Mitral Incompetence due to myxomatous degeneration of the leaflets.

LERICHE'S SYNDROME: Occlusion of distal aorta ------>

Hip, thigh, and calf fatigue.

Impotence

BEHCET'S SYNDROME: Vasculitis ------> secondary symptoms:

Oral and genital ulcers

Uveitis

Optic atrophy

SHOULDER-HAND SYNDROME: Pain in shoulder and swelling in hand, sometimes occurring after

Myocardial Infarction.

SICK SINUS SYNDROME: Chaotic atrial activity; continual changes in P-Waves. Bradycardia,

alternating with recurrent ectopic beats and runs of tachycardia.

SUPERIOR VENA CAVA SYNDROME: Caused by a tumor. Obstruction of SVC ------>

Edema

Engorgement of the vessels of face, neck, and arms.

Nonproductive cough

Dyspnea

TAKAYASU'S SYNDROME: Arteritis of the Aortic Arch, resulting in no pulse. Seen in young women.

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WOLF-PARKINSON WHITE SYNDROME: ECG pattern of Paroxysmal Tachycardia.

Short PR interval

Delta wave = early QRS complex.

IATROGENIC (or Secondary to Medical Treatment)

AFFERENT LOOP SYNDROME: Gastrojejunal loop obstruction, proximal to a gastrojejunostomy.

Ingestion of food produces nausea, pain, and duodenal distension.

ASHERMAN'S SYNDROME: Adhesions within the endometrial cavity, causing amenorrhea and infertility.

Adhesions probably were caused by surgery.

ULYSSES SYNDROME: Ill effects from follow-up diagnostic tests following a false-positive screening

test.

NEOPLASTIC (Malignant or Benign)

CARCINOID SYNDROME: Carcinoid tumor producing Bradykinin + Serotonin ------> secondary

symptoms:

Cyanotic flushing

Diarrhea

Bronchial spasm

Edema, ascites.

CRONKHITE-CANADA SYNDROME: GI-Polyps with diffuse alopecia (hair-loss) and nail dystrophy.

May see protein-losing enteropathy and malabsorption.

GARDNER'S SYNDROME: Multiple inherited tumors, hereditary dominant trait.

Skull osteomas, Fibromas, Epidermoid cysts

Colonic polyposis (APC gene) ------> predisposition to colonic adenocarcinoma.

LAMBERT-EATON SYNDROME: Progressive proximal muscle weakness secondary to a carcinoma.

MEIGS' SYNDROME: Fibroma of ovary with ascites and hydrothorax

PANCOAST SYNDROME: Tumor near pulmonary apex ------>

Neuritic pain of chest and arm

Muscle atrophy of the arm

Horner's Syndrome (impaired cervical sympathetics)

PEUTZ-JEGHERS SYNDROME: Polyposis (hamartomas) of small intestine

Also see melanin pigmentation of buccal mucosa and skin around mouth and lips

CONGENITAL

CEREBELLAR SYNDROME: Congenital Cerebellar Ataxia

CERVICAL SYNDROME: Supernumerary C7 rib ------> Pressure on brachial plexus ------> pain radiating

over shoulder, arm, and forearm over C7 distribution.

DANDY-WALKER SYNDROME: Obstruction of Foramina of Magendie and Luschka in infants ------>

Hydrocephalus.

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DIGEORGE SYNDROME: Congenital absence of 3rd

and 4th

Branchial Arches (Thymus and Parathyroid

Glands) ------> secondary symptoms:

No cell-mediated immunity ------> Frequent viral and fungal infections

Characteristic facial deformities

DOWN SYNDROME: Trisomy 21. Mental retardation, characteristic facial features, Simeon crease in

hand.

FANCONI'S SYNDROME Type I: Bone-marrow hypoplasia ------> refractory anemia, pancytopenia.

EHLERS-DANLOS SYNDROME: Congenital defect in collagen.

Hyper-elasticity and friability of the skin.

Hyperextensibility of the joints.

FETAL ALCOHOL SYNDROME: Fetal malformations, growth deficiencies, craniofacial anomalies, limb

defects.

GOODPASTURE'S SYNDROME: Autoantibodies against basement membranes ------>

Glomerulonephritis (kidney) and hemoptysis (lungs).

Often, death by renal failure

KLINEFELTER'S SYNDROME: Trisomy XXY ------> testicular atrophy, increase in gonadotropins in

urine.

KLIPPEL-FEIL SYNDROME:

Cervical vertebrate fused

Congenital short neck, limited neck rotation

Abnormalities of the brainstem and cerebellum

Low hairline.

LESCH-NYHAN SYNDROME: Deficiency of HGPRT (Hypoxanthine-Guanine Phospho-ribosyltransferase -----

->

Hyperuricemia, uric acid kidney stones

Choreoathetosis

Mental retardation, autism, spastic cerebral palsy

X-Linked recessive

MARFAN SYNDROME: Connective Tissue disorder ------>

Arachnodactyly: Abnormally long digits and extremities

Subluxation of lens

Dissecting aortic aneurism

POSTRUBELLA SYNDROME: Infantile defects resulting from maternal Rubella infection during first

trimester.

Microphthalmos, cataracts

Deafness

Mental retardation

Patent ductus arteriosis, Pulmonary arterial stenosis

PRADER-WILLI SYNDROME: Short stature, mental retardation, polyphagia with marked obesity,

sexual infantilism.

RENDU-OSLER-WEBER SYNDROME: Hereditary hemorrhagic telangiectasia.

SUDDEN INFANT DEATH SYNDROME: Unexplained death in sleeping infants.

TURNER'S SYNDROME: XO monosomy.

Dwarfism

Webbed neck

Valgus of elbow.

Amenorrhea

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WILSON SYNDROME: Congenital defect in Ceruloplasmin, leading to buildup of copper ------> mental

retardation, cirrhosis, hepatolenticular degeneration.

ENDOCRINE, REPRODUCTIVE

AMENNORRHEA-GALACTORRHEA SYNDROME: Non-physiologic lactation, resulting from

endocrinologic causes or from a pituitary disorder.

CONN'S SYNDROME: Primary Hyperaldosteronism ------> muscular weakness, hypertension,

hypokalemia, alkalosis.

CUSHING'S SYNDROME: Hypersecretion of cortisol ------> secondary symptoms and characteristics:

Fatness of face and trunk with wasting of extremities

Buffalo hump

Bone decalacification

Corticoid diabetes

Hypertension

PREMENSTRUAL SYNDROME: Abnormal sensation in breasts, abdominal pain, thirst, headache,

pelvic congestion, nervous irritability.

Ocassionally nausea and vomiting.

SHEEHAN'S SYNDROME: Post-partum pituitary necrosis ------> hypopituitarism.

STEIN-LEVENTHAL SYNDROME: Polycystic ovary ------> infertility, amenorrhea, hirsutism. Seen in

obese women.

TESTICULAR FEMINIZATION SYNDROME: Insensitivity to Testosterone. Male

Psuedohermaphroditism

Complete female external genatalia, incompletely developed vagina, rudimentary uterus.

PULMONARY

KARTAGENER'S SYNDROME: Situs Inversus (lateral transposition of lungs) resulting from chronic

sinusitis and bronchiectasis.

HAMMAN-RICH SYNDROME: Interstitial fibrosis of the lung.

MIDDLE-LOBE SYNDROME: Chronic pneumonitis and atalectasis of middle lobe of right lung.

CHURG-STRAUSS SYNDROME: Allergic Granulomatous Angiitis: Asthma, fever, eosinophilia.

INFECTIOUS

FITZ-HUGH-CURTIS SYNDROME: Gonococcal Periphepatitis in woman, as a complication of

Gonorrhea.

GUILLAN-BARRE SYNDROME: Infectious Polyneuritis of unknown cause.

HUNT'S SYNDROME: Herpe's Zoster infection of Facial Nerve (CN VII) and Geniculate Ganglion ------>

facial palsy.

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Zoster of ear

PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as conjunctivitis.

REYE'S SYNDROME: Loss of consciousness and seizures in kids, after a viral infection treated by

aspirin.

REITER'S SYNDROME: Symptom cluster. Etiology is thought to be Chlamydial or post-chlamydial.

Urethritis

Iridocyclitis (Conjunctivitis)

Arthritis

Skin lesions like karatoderma blenorrhagicum

Also can see fatty liver or liver necrosis.

SCALDED SKIN SYNDROME: S. Aureus toxic epidermal necrolysis.

STEVENS-JOHNSON SYNDROME: Erythema Multiforme complication.

Large areas of skin slough, including mouth and anogenital membranes.

Mucous membranes: stomatitis, urethritis, conjunctivitis.

Headache, fever, malaise.

TOXIC SHOCK SYNDROME: Caused by superabsorbent tampons. Infection with Staph Aureus and

subsequent toxicity of exotoxin TSST ------> systemic anaphylaxis.

Fever, vomiting, diarrhea

Red rash followed by desquamation

WATERHOUSE-FRIEDRICHSON SYNDROME: Meningeococcal Meningitis ------> DIC, hemorrhagic

infarct of adrenal glands ------> fulminant adrenal failure.

Vomiting, diarrhea.

Shock

Extensive purpura, cyanosis, circulatory collapse.

RENAL

KEMMELSTIEL-WILSON SYNDROME: Diabetic Glomerulosclerosis.

BARTTER'S SYNDROME: Juxtaglomerular Cell Hyperplasia ------> secondary symptoms:

Hyperaldosteronism, Hypokalemic Alkalosis, elevated renin and angiotensin

No hypertension.

Compare to Conn's Syndrome

FANCONI'S SYNDROME Type II: Renal aminoaciduria, glycosuria, hypophosphaturia, cysteine

deposition, rickets.

THORN'S SYNDROME: Salt-losing nephritis.

NEUROLOGICAL

CARPAL-TUNNEL SYNDROME: Compression of Median Nerve through the Carpal Tunnel ------> pain and

parasthesia over distribution of Median N.

FROIN'S SYNDROME: Block in CSF flow ------> xanthochromia (yellow discoloration) of CSF.

ACUTE-BRAIN SYNDROME: Delirium, confusion, disorientation, developing suddenly in a person that

was previously psychologically normal.

GERSTMANN'S SYNDROME: Lesion between occipital area and angular gyrus ------> symptoms:

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Finger agnosia, Agraphia, acalculia

Right-left disorientation

HORNER'S SYNDROME: Loss or lesion of cervical sympathetic ganglion ------>

Ptosis, miosis, anhydrosis

Enophthalmos (caved in eyes)

KORSAKOFF SYNDROME: Loss of short-term memory in chronic alcoholism, caused by degeneration

of mamillary bodies.

RILEY-DAY SYNDROME: Familial dysautonomia.

GASTROINTESTINAL

MALLORY-WEISS SYNDROME: Laceration of lower end of esophagus from vomiting ------>

hematemesis. Often seen in alcoholics.

MALABSORPTION SYNDROME: Impaired absorption of dietary substance ------> diarrhea, weakness,

weight loss, or symptoms from specific deficiencies.

BARRET SYNDROME: Chronic peptic ulcer of the lower esophagus, resulting in metaplasia of

esophageal columnar epithelium ------> squamous epithelium.

ZOLLINGER-ELLISOHN SYNDROME: Gastrin-secreting tumor in pancreas ------> Severe peptic ulcers,

gastric hyperacidity.

PLUMMER-VINSON SYNDROME: Esophageal Webs, leading to dysphagis and atrophy of papillae of

tongue.

Also see hypochromic anemia, splenomegaly.

RETICULOENDOTHELIAL, HEMATOLOGIC

BANTI'S SYNDROME: Chronic Congestive Splenomegaly with anemia, caused by either Portal

Hypertension or Splenic Vein Thrombosis.

BUDD-CHIARI SYNDROME:

ACUTE: Hepatic Vein Thrombosis ------> Massive ascites and dramatic death.

CHRONIC: Gradual hepatomegaly, portal hypertension, nausea, vomiting, edema, ulimately

death.

DUBIN-JOHNSON SYNDROME: Defect in excretion of conjugated bilirubin ------> recurrent mild jaundice.

Buildup of direct builirubin in blood.

CHIDIAK-HIGASHI SYNDROME: Abnormalities in leukocytes with large inclusions.

CRUVEILHIER-BAUMGARTEN SYNDROME: Symptoms cluster:

Liver cirrhosis

Caput Medussae

Venous hum and thrill

FELTY'S SYNDROME: Rheumatoid Arthritis with splenomegaly, leukopenia, anemia, and

thrombocytopenia.

LOFFLER'S SYNDROME: Eosinophilia with transient infiltrates in lungs.

PARINAUD'S SYNDROME: Preauricular lymph node enlargement on the same side as conjunctivitis.

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UNCATEGORIZED

YELLOW-NAIL SYNDROME: Stop growth of nails ------> increased convexity, thickening, and yellowing

of nails.

Found in Lymphedema, bronchitis, chronic bronchiectasis.

COSTOCHONDRAL SYNDROME: Pain in chest with tenderness over one or more costochondral

junctions.

Similar to Tietze's Syndrome but no specific inflammation.

TIETZE'S SYNDROME: Costochondritis. Swelling and tenderness of the costal cartilege.

MIKULICZ'S SYNDROME: Salivary and lacrimal enlargement as seen in several diseases:

Sarcoidosis

Tuberculosis

Leukemia

MUNCHAUSEN SYNDROME: Malingering -- fabrication of a clinically convincing disease by an itinerant

malingerer.

PICKWICKIAN SYNDROME: Symptom cluster

Obesity

Hypoventilation

Somnolence

Erythrocytosis

RESTLESS LEGS SYNDROME: Need to stretch legs at night before going to sleep; twitch in legs

causing insomnia.

STRAIGHT BACK SYNDROME: Loss of normal kyphosis of thoracic spine ------>

Straight spine

Ejection murmur

Widened cardiac silouhette on x-ray

SJضGREN'S SYNDROME: Autoimmune complex

Keratoconjuctivitis Sicca (dry eyes and mouth)

Dryness of Mucous membranes

Telangiectasias in face

Parotid enlargement

MISCELLANEOUS

Fastest growing tumor Burkitt's

PE's are found in half of all autopsies

Courvoisier's Law: tumors that obstruct the common bile duct cause enlarged gallbladders, but obstructing

gallstones do not (too much scarring).

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Only DNA virus to replicate in cytoplasm: Pox

Only RNA virus to replicate in nucleus: Influenza

Bacillus anthracis has the only protein capsule

Bordetella pertussis (Whooping Cough) elicits lymphocytosis rather than granulocytosis

Bronchioalveolar carcinomas grow without destroying the normal architecture of the lung

Cryptococcus neoformans often lacks a capsule and, when stained with GMS, looks just like Pneumycistis carinii,

except that Cryptococcus lacks the prominent nucleoli.